ClinVar Miner

List of variants in gene GUCY2D studied for Cone-rod dystrophy 6; Leber congenital amaurosis 1

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Gene type:
ClinVar version:
Total variants: 1203
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His) rs8069344 0.20071
NM_000180.4(GUCY2D):c.2109G>A (p.Ala703=) rs56130505 0.11446
NM_000180.4(GUCY2D):c.741C>T (p.His247=) rs3829789 0.10665
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_000180.4(GUCY2D):c.3044-7G>T rs56348143 0.02884
NM_000180.4(GUCY2D):c.3225-7C>T rs79887212 0.02045
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773 0.02033
NM_000180.4(GUCY2D):c.1119G>A (p.Val373=) rs56034424 0.01951
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=) rs56316238 0.01492
NM_000180.4(GUCY2D):c.3043+20G>C rs78844078 0.01374
NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=) rs112372281 0.00461
NM_000180.4(GUCY2D):c.1566+17G>A rs140657975 0.00357
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) rs55916957 0.00340
NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe) rs557108466 0.00228
NM_000180.4(GUCY2D):c.2917G>T (p.Val973Leu) rs181567056 0.00191
NM_000180.4(GUCY2D):c.1513C>T (p.Leu505=) rs146849545 0.00128
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=) rs529594203 0.00117
NM_000180.4(GUCY2D):c.2155C>T (p.Leu719=) rs151106252 0.00111
NM_000180.4(GUCY2D):c.2164C>T (p.Arg722Trp) rs34331388 0.00111
NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu) rs146149224 0.00106
NM_000180.4(GUCY2D):c.306C>G (p.Pro102=) rs540877830 0.00103
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=) rs61749678 0.00095
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met) rs186508466 0.00057
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682 0.00057
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser) rs146820642 0.00053
NM_000180.4(GUCY2D):c.3042G>A (p.Leu1014=) rs139019420 0.00050
NM_000180.4(GUCY2D):c.730A>C (p.Met244Leu) rs141956583 0.00049
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567 0.00047
NM_000180.4(GUCY2D):c.2413-14C>T rs189559705 0.00046
NM_000180.4(GUCY2D):c.3225-10C>T rs200705417 0.00034
NM_000180.4(GUCY2D):c.2181C>A (p.Gly727=) rs140628227 0.00032
NM_000180.4(GUCY2D):c.337G>A (p.Ala113Thr) rs1445892049 0.00032
NM_000180.4(GUCY2D):c.615C>A (p.Leu205=) rs568227769 0.00031
NM_000180.4(GUCY2D):c.921C>T (p.Ala307=) rs148136213 0.00031
NM_000180.4(GUCY2D):c.2769+15G>A rs377279983 0.00029
NM_000180.4(GUCY2D):c.2676C>T (p.Ile892=) rs140661218 0.00027
NM_000180.4(GUCY2D):c.1938C>T (p.Leu646=) rs201196538 0.00025
NM_000180.4(GUCY2D):c.2577-15G>A rs199708312 0.00024
NM_000180.4(GUCY2D):c.343T>C (p.Ser115Pro) rs562248093 0.00022
NM_000180.4(GUCY2D):c.1026+6C>T rs147410617 0.00021
NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met) rs143585840 0.00021
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu) rs200211315 0.00019
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr) rs143650826 0.00019
NM_000180.4(GUCY2D):c.1584A>G (p.Arg528=) rs144659131 0.00018
NM_000180.4(GUCY2D):c.488C>T (p.Pro163Leu) rs200586401 0.00018
NM_000180.4(GUCY2D):c.3246C>T (p.Ser1082=) rs374580575 0.00016
NM_000180.4(GUCY2D):c.1776G>C (p.Val592=) rs376508683 0.00013
NM_000180.4(GUCY2D):c.1979G>A (p.Arg660Gln) rs61750162 0.00013
NM_000180.4(GUCY2D):c.991C>A (p.Arg331Ser) rs34596269 0.00013
NM_000180.4(GUCY2D):c.2616G>A (p.Glu872=) rs369035095 0.00012
NM_000180.4(GUCY2D):c.1297C>G (p.Arg433Gly) rs769749617 0.00011
NM_000180.4(GUCY2D):c.1432C>T (p.Leu478=) rs138298187 0.00011
NM_000180.4(GUCY2D):c.2945-20G>A rs376439753 0.00011
NM_000180.4(GUCY2D):c.3014C>T (p.Thr1005Ile) rs150185423 0.00011
NM_000180.4(GUCY2D):c.3238G>C (p.Gly1080Arg) rs371919912 0.00011
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_000180.4(GUCY2D):c.2184C>T (p.Asp728=) rs150422660 0.00010
NM_000180.4(GUCY2D):c.1138C>T (p.Arg380Cys) rs775105018 0.00009
NM_000180.4(GUCY2D):c.145G>T (p.Ala49Ser) rs771232307 0.00009
NM_000180.4(GUCY2D):c.1624G>A (p.Gly542Ser) rs146570135 0.00009
NM_000180.4(GUCY2D):c.2763C>A (p.Val921=) rs776152947 0.00009
NM_000180.4(GUCY2D):c.3220C>T (p.Pro1074Ser) rs138869083 0.00009
NM_000180.4(GUCY2D):c.1379-8C>T rs757158931 0.00008
NM_000180.4(GUCY2D):c.2334C>T (p.Val778=) rs371541944 0.00008
NM_000180.4(GUCY2D):c.3225-15G>A rs775550206 0.00008
NM_000180.4(GUCY2D):c.482C>T (p.Thr161Met) rs1454369607 0.00008
NM_000180.4(GUCY2D):c.887C>A (p.Ala296Asp) rs374679518 0.00008
NM_000180.4(GUCY2D):c.1312C>T (p.Arg438Cys) rs565948960 0.00007
NM_000180.4(GUCY2D):c.140C>T (p.Pro47Leu) rs1014118881 0.00007
NM_000180.4(GUCY2D):c.1659T>G (p.Gly553=) rs766570845 0.00007
NM_000180.4(GUCY2D):c.1868C>T (p.Thr623Met) rs370742162 0.00007
NM_000180.4(GUCY2D):c.2260G>A (p.Glu754Lys) rs747951577 0.00007
NM_000180.4(GUCY2D):c.2441C>T (p.Thr814Met) rs150742659 0.00007
NM_000180.4(GUCY2D):c.3129G>A (p.Thr1043=) rs200403362 0.00007
NM_000180.4(GUCY2D):c.3274C>T (p.Arg1092Trp) rs746525316 0.00007
NM_000180.4(GUCY2D):c.1278C>T (p.Ser426=) rs746671374 0.00006
NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg) rs140638938 0.00006
NM_000180.4(GUCY2D):c.1524C>T (p.Asp508=) rs200651999 0.00006
NM_000180.4(GUCY2D):c.2031A>G (p.Arg677=) rs200700723 0.00006
NM_000180.4(GUCY2D):c.2061C>T (p.His687=) rs140366544 0.00006
NM_000180.4(GUCY2D):c.2178C>T (p.Ala726=) rs377648185 0.00006
NM_000180.4(GUCY2D):c.219G>A (p.Pro73=) rs1324115702 0.00006
NM_000180.4(GUCY2D):c.2263+17C>T rs377349549 0.00006
NM_000180.4(GUCY2D):c.2331T>C (p.Pro777=) rs147201985 0.00006
NM_000180.4(GUCY2D):c.451G>A (p.Gly151Ser) rs773849840 0.00006
NM_000180.4(GUCY2D):c.520G>A (p.Ala174Thr) rs978982123 0.00006
NM_000180.4(GUCY2D):c.659C>T (p.Pro220Leu) rs769129492 0.00006
NM_000180.4(GUCY2D):c.912C>A (p.Ala304=) rs534270598 0.00006
NM_000180.4(GUCY2D):c.1134G>A (p.Val378=) rs577806343 0.00005
NM_000180.4(GUCY2D):c.1160T>A (p.Val387Asp) rs755223158 0.00005
NM_000180.4(GUCY2D):c.1323A>T (p.Ser441=) rs780550917 0.00005
NM_000180.4(GUCY2D):c.1750-15C>T rs374969713 0.00005
NM_000180.4(GUCY2D):c.1869G>A (p.Thr623=) rs150797198 0.00005
NM_000180.4(GUCY2D):c.1956+15G>A rs367711120 0.00005
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr) rs751340355 0.00005
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp) rs200637525 0.00005
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro) rs573367793 0.00005
NM_000180.4(GUCY2D):c.1220C>T (p.Thr407Met) rs377650196 0.00004
NM_000180.4(GUCY2D):c.1227G>A (p.Ala409=) rs148448937 0.00004
NM_000180.4(GUCY2D):c.1274G>C (p.Gly425Ala) rs375468242 0.00004
NM_000180.4(GUCY2D):c.1288G>A (p.Ala430Thr) rs147586061 0.00004
NM_000180.4(GUCY2D):c.1298G>A (p.Arg433Gln) rs144151076 0.00004
NM_000180.4(GUCY2D):c.1463+20A>G rs371533971 0.00004
NM_000180.4(GUCY2D):c.1536T>C (p.Phe512=) rs376601845 0.00004
NM_000180.4(GUCY2D):c.1773C>T (p.Asn591=) rs758841128 0.00004
NM_000180.4(GUCY2D):c.1805G>A (p.Arg602Gln) rs747173302 0.00004
NM_000180.4(GUCY2D):c.187G>A (p.Ala63Thr) rs761828482 0.00004
NM_000180.4(GUCY2D):c.1983C>T (p.Gly661=) rs756393266 0.00004
NM_000180.4(GUCY2D):c.1997G>A (p.Arg666Gln) rs147166962 0.00004
NM_000180.4(GUCY2D):c.2009G>A (p.Arg670Gln) rs369222553 0.00004
NM_000180.4(GUCY2D):c.2108C>T (p.Ala703Val) rs577880164 0.00004
NM_000180.4(GUCY2D):c.2162G>A (p.Arg721His) rs141352623 0.00004
NM_000180.4(GUCY2D):c.2165G>A (p.Arg722Gln) rs745426085 0.00004
NM_000180.4(GUCY2D):c.2171C>T (p.Thr724Met) rs561318435 0.00004
NM_000180.4(GUCY2D):c.2271G>A (p.Val757=) rs143607596 0.00004
NM_000180.4(GUCY2D):c.2608C>A (p.Pro870Thr) rs1009898777 0.00004
NM_000180.4(GUCY2D):c.2831G>A (p.Arg944Gln) rs369527655 0.00004
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000180.4(GUCY2D):c.3102C>T (p.Gly1034=) rs749621660 0.00004
NM_000180.4(GUCY2D):c.3195C>G (p.Pro1065=) rs765119055 0.00004
NM_000180.4(GUCY2D):c.3282G>A (p.Leu1094=) rs281865413 0.00004
NM_000180.4(GUCY2D):c.595C>A (p.Arg199Ser) rs917296356 0.00004
NM_000180.4(GUCY2D):c.802C>A (p.Leu268Met) rs780014587 0.00004
NM_000180.4(GUCY2D):c.885C>T (p.Leu295=) rs746924059 0.00004
NM_000180.4(GUCY2D):c.98T>A (p.Leu33Gln) rs755150485 0.00004
NM_000180.4(GUCY2D):c.1180C>T (p.Leu394=) rs1207668008 0.00003
NM_000180.4(GUCY2D):c.1495G>C (p.Gly499Arg) rs751263915 0.00003
NM_000180.4(GUCY2D):c.1519G>A (p.Val507Met) rs746002871 0.00003
NM_000180.4(GUCY2D):c.1721G>A (p.Arg574His) rs560270873 0.00003
NM_000180.4(GUCY2D):c.1824G>A (p.Ala608=) rs765774591 0.00003
NM_000180.4(GUCY2D):c.1828C>A (p.Leu610Ile) rs779224998 0.00003
NM_000180.4(GUCY2D):c.1987G>A (p.Ala663Thr) rs749314383 0.00003
NM_000180.4(GUCY2D):c.24G>T (p.Ala8=) rs987666168 0.00003
NM_000180.4(GUCY2D):c.2551C>T (p.Arg851Trp) rs571236000 0.00003
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs) rs1200134985 0.00003
NM_000180.4(GUCY2D):c.2770-7C>T rs745761477 0.00003
NM_000180.4(GUCY2D):c.3006G>A (p.Thr1002=) rs764749298 0.00003
NM_000180.4(GUCY2D):c.3175A>G (p.Arg1059Gly) rs878853342 0.00003
NM_000180.4(GUCY2D):c.3181G>A (p.Gly1061Ser) rs62641254 0.00003
NM_000180.4(GUCY2D):c.3272G>A (p.Arg1091Gln) rs773307918 0.00003
NM_000180.4(GUCY2D):c.479C>T (p.Thr160Ile) rs750399742 0.00003
NM_000180.4(GUCY2D):c.483G>A (p.Thr161=) rs762618243 0.00003
NM_000180.4(GUCY2D):c.510T>C (p.Asp170=) rs753886745 0.00003
NM_000180.4(GUCY2D):c.566C>T (p.Ala189Val) rs375259185 0.00003
NM_000180.4(GUCY2D):c.613C>T (p.Leu205Phe) rs764280512 0.00003
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met) rs61749673 0.00003
NM_000180.4(GUCY2D):c.1021C>A (p.Gln341Lys) rs368799458 0.00002
NM_000180.4(GUCY2D):c.1044C>T (p.Gly348=) rs748665297 0.00002
NM_000180.4(GUCY2D):c.1116G>T (p.Trp372Cys) rs770255396 0.00002
NM_000180.4(GUCY2D):c.1405G>A (p.Gly469Ser) rs748301943 0.00002
NM_000180.4(GUCY2D):c.1469G>A (p.Arg490Gln) rs753488664 0.00002
NM_000180.4(GUCY2D):c.1518C>T (p.Thr506=) rs779132852 0.00002
NM_000180.4(GUCY2D):c.1564A>G (p.Lys522Glu) rs200189360 0.00002
NM_000180.4(GUCY2D):c.1566+3G>T rs752607737 0.00002
NM_000180.4(GUCY2D):c.1618C>T (p.Arg540Cys) rs61749754 0.00002
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530 0.00002
NM_000180.4(GUCY2D):c.1720C>T (p.Arg574Cys) rs137853897 0.00002
NM_000180.4(GUCY2D):c.1758G>T (p.Glu586Asp) rs765906787 0.00002
NM_000180.4(GUCY2D):c.180C>T (p.Gly60=) rs753766842 0.00002
NM_000180.4(GUCY2D):c.1836G>A (p.Glu612=) rs1287364718 0.00002
NM_000180.4(GUCY2D):c.1887C>A (p.Asp629Glu) rs770016889 0.00002
NM_000180.4(GUCY2D):c.1901G>C (p.Arg634Thr) rs759957436 0.00002
NM_000180.4(GUCY2D):c.2034C>T (p.Phe678=) rs776298636 0.00002
NM_000180.4(GUCY2D):c.2056G>A (p.Gly686Ser) rs766482364 0.00002
NM_000180.4(GUCY2D):c.206C>G (p.Ser69Cys) rs1328542671 0.00002
NM_000180.4(GUCY2D):c.2113+9C>G rs201717870 0.00002
NM_000180.4(GUCY2D):c.2172G>A (p.Thr724=) rs760472338 0.00002
NM_000180.4(GUCY2D):c.218C>A (p.Pro73Gln) rs750153057 0.00002
NM_000180.4(GUCY2D):c.2250G>A (p.Glu750=) rs149560134 0.00002
NM_000180.4(GUCY2D):c.2263+18G>A rs547968529 0.00002
NM_000180.4(GUCY2D):c.232C>T (p.Arg78Cys) rs558294899 0.00002
NM_000180.4(GUCY2D):c.2435G>A (p.Arg812Gln) rs201388569 0.00002
NM_000180.4(GUCY2D):c.2457G>C (p.Ser819=) rs149866657 0.00002
NM_000180.4(GUCY2D):c.2506C>T (p.Arg836Trp) rs145420245 0.00002
NM_000180.4(GUCY2D):c.2600C>T (p.Thr867Met) rs375727197 0.00002
NM_000180.4(GUCY2D):c.2601G>C (p.Thr867=) rs760202269 0.00002
NM_000180.4(GUCY2D):c.2664C>T (p.Gly888=) rs764336613 0.00002
NM_000180.4(GUCY2D):c.2743A>G (p.Ile915Val) rs1189392055 0.00002
NM_000180.4(GUCY2D):c.2787C>T (p.Asp929=) rs746827007 0.00002
NM_000180.4(GUCY2D):c.2802C>T (p.Ala934=) rs1346164552 0.00002
NM_000180.4(GUCY2D):c.2921G>A (p.Arg974His) rs776083430 0.00002
NM_000180.4(GUCY2D):c.2943G>A (p.Ser981=) rs749863195 0.00002
NM_000180.4(GUCY2D):c.3051C>G (p.Arg1017=) rs143761257 0.00002
NM_000180.4(GUCY2D):c.3224+10C>T rs778736663 0.00002
NM_000180.4(GUCY2D):c.3271C>T (p.Arg1091Ter) rs769818541 0.00002
NM_000180.4(GUCY2D):c.3273A>G (p.Arg1091=) rs375105072 0.00002
NM_000180.4(GUCY2D):c.429C>T (p.Ala143=) rs941216139 0.00002
NM_000180.4(GUCY2D):c.452G>A (p.Gly151Asp) rs890569519 0.00002
NM_000180.4(GUCY2D):c.576C>A (p.Asp192Glu) rs528169554 0.00002
NM_000180.4(GUCY2D):c.57C>G (p.Pro19=) rs1296984909 0.00002
NM_000180.4(GUCY2D):c.751C>T (p.Leu251=) rs753468278 0.00002
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter) rs756730335 0.00002
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys) rs61749674 0.00002
NM_000180.4(GUCY2D):c.999G>A (p.Glu333=) rs779241028 0.00002
NM_000180.4(GUCY2D):c.1026+15G>A rs556242786 0.00001
NM_000180.4(GUCY2D):c.102C>T (p.Pro34=) rs1262337868 0.00001
NM_000180.4(GUCY2D):c.1037T>A (p.Leu346His) rs1372180006 0.00001
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys) rs61749676 0.00001
NM_000180.4(GUCY2D):c.1099G>A (p.Ala367Thr) rs754954638 0.00001
NM_000180.4(GUCY2D):c.1146C>T (p.Ile382=) rs776042543 0.00001
NM_000180.4(GUCY2D):c.1147C>T (p.Arg383Trp) rs545271894 0.00001
NM_000180.4(GUCY2D):c.1148G>A (p.Arg383Gln) rs373827556 0.00001
NM_000180.4(GUCY2D):c.1149G>C (p.Arg383=) rs1975741252 0.00001
NM_000180.4(GUCY2D):c.1154C>T (p.Ala385Val) rs1301307214 0.00001
NM_000180.4(GUCY2D):c.1224C>T (p.Asp408=) rs201054971 0.00001
NM_000180.4(GUCY2D):c.1225G>A (p.Ala409Thr) rs144565168 0.00001
NM_000180.4(GUCY2D):c.1230G>A (p.Ala410=) rs542570988 0.00001
NM_000180.4(GUCY2D):c.1255A>C (p.Met419Leu) rs1388468307 0.00001
NM_000180.4(GUCY2D):c.1257G>A (p.Met419Ile) rs202111469 0.00001
NM_000180.4(GUCY2D):c.1317G>A (p.Gly439=) rs56056557 0.00001
NM_000180.4(GUCY2D):c.1329C>T (p.Pro443=) rs1292562609 0.00001
NM_000180.4(GUCY2D):c.1339C>T (p.Pro447Ser) rs1029006549 0.00001
NM_000180.4(GUCY2D):c.1368C>T (p.Ile456=) rs1288235406 0.00001
NM_000180.4(GUCY2D):c.1378+12C>T rs759370090 0.00001
NM_000180.4(GUCY2D):c.1378+16C>G rs963135195 0.00001
NM_000180.4(GUCY2D):c.1403T>C (p.Leu468Pro) rs1406502907 0.00001
NM_000180.4(GUCY2D):c.1415T>C (p.Leu472Pro) rs1478819668 0.00001
NM_000180.4(GUCY2D):c.1433T>C (p.Leu478Pro) rs766944930 0.00001
NM_000180.4(GUCY2D):c.1440G>A (p.Gly480=) rs1445195113 0.00001
NM_000180.4(GUCY2D):c.1449G>A (p.Leu483=) rs141346556 0.00001
NM_000180.4(GUCY2D):c.1463+15G>T rs753328828 0.00001
NM_000180.4(GUCY2D):c.1494C>T (p.Ser498=) rs369663256 0.00001
NM_000180.4(GUCY2D):c.1547A>G (p.His516Arg) rs1345987699 0.00001
NM_000180.4(GUCY2D):c.1552G>A (p.Gly518Ser) rs537729498 0.00001
NM_000180.4(GUCY2D):c.1555A>C (p.Thr519Pro) rs1198818689 0.00001
NM_000180.4(GUCY2D):c.1562G>A (p.Arg521Gln) rs751520851 0.00001
NM_000180.4(GUCY2D):c.1566+1G>A rs1348467293 0.00001
NM_000180.4(GUCY2D):c.1566+4G>A rs1191933070 0.00001
NM_000180.4(GUCY2D):c.1573C>A (p.Gln525Lys) rs1168076308 0.00001
NM_000180.4(GUCY2D):c.1608G>A (p.Met536Ile) rs759173115 0.00001
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter) rs1290420698 0.00001
NM_000180.4(GUCY2D):c.1645A>G (p.Ser549Gly) rs1243599161 0.00001
NM_000180.4(GUCY2D):c.165G>T (p.Thr55=) rs1225559381 0.00001
NM_000180.4(GUCY2D):c.1669-14C>G rs761529451 0.00001
NM_000180.4(GUCY2D):c.16C>T (p.Arg6Cys) rs1975657387 0.00001
NM_000180.4(GUCY2D):c.1707G>T (p.Gln569His) rs568220391 0.00001
NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val) rs61749756 0.00001
NM_000180.4(GUCY2D):c.1719C>A (p.Ile573=) rs377287956 0.00001
NM_000180.4(GUCY2D):c.1749+11G>A rs759723474 0.00001
NM_000180.4(GUCY2D):c.1750-7C>G rs918147589 0.00001
NM_000180.4(GUCY2D):c.1750-8C>G rs760765585 0.00001
NM_000180.4(GUCY2D):c.1763G>A (p.Arg588Gln) rs1380583409 0.00001
NM_000180.4(GUCY2D):c.1851G>A (p.Val617=) rs754581545 0.00001
NM_000180.4(GUCY2D):c.1852G>A (p.Val618Ile) rs767258249 0.00001
NM_000180.4(GUCY2D):c.1870C>T (p.Arg624Trp) rs757230483 0.00001
NM_000180.4(GUCY2D):c.1871G>A (p.Arg624Gln) rs746020263 0.00001
NM_000180.4(GUCY2D):c.1893C>T (p.Leu631=) rs763522643 0.00001
NM_000180.4(GUCY2D):c.1956+9C>T rs1975869254 0.00001
NM_000180.4(GUCY2D):c.1958G>A (p.Gly653Glu) rs139168077 0.00001
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter) rs61750161 0.00001
NM_000180.4(GUCY2D):c.1996C>T (p.Arg666Trp) rs757387072 0.00001
NM_000180.4(GUCY2D):c.2046C>T (p.Ile682=) rs772640099 0.00001
NM_000180.4(GUCY2D):c.2055C>T (p.His685=) rs762943482 0.00001
NM_000180.4(GUCY2D):c.2062G>A (p.Gly688Arg) rs144291605 0.00001
NM_000180.4(GUCY2D):c.2084A>G (p.Lys695Arg) rs1237783733 0.00001
NM_000180.4(GUCY2D):c.2094G>A (p.Pro698=) rs747807494 0.00001
NM_000180.4(GUCY2D):c.2114-9C>T rs908880265 0.00001
NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu) rs765463082 0.00001
NM_000180.4(GUCY2D):c.2146G>A (p.Asp716Asn) rs755464893 0.00001
NM_000180.4(GUCY2D):c.2156T>C (p.Leu719Pro) rs756464199 0.00001
NM_000180.4(GUCY2D):c.2182G>A (p.Asp728Asn) rs766646217 0.00001
NM_000180.4(GUCY2D):c.2247G>A (p.Leu749=) rs746893543 0.00001
NM_000180.4(GUCY2D):c.2262G>A (p.Glu754=) rs1975893237 0.00001
NM_000180.4(GUCY2D):c.2264-16C>A rs747899948 0.00001
NM_000180.4(GUCY2D):c.2268G>C (p.Val756=) rs746058533 0.00001
NM_000180.4(GUCY2D):c.2282G>A (p.Arg761Gln) rs764439180 0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000180.4(GUCY2D):c.2325G>T (p.Gln775His) rs368384232 0.00001
NM_000180.4(GUCY2D):c.2359T>G (p.Cys787Gly) rs368958527 0.00001
NM_000180.4(GUCY2D):c.2383C>T (p.Arg795Trp) rs765910207 0.00001
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171 0.00001
NM_000180.4(GUCY2D):c.2387C>T (p.Pro796Leu) rs1304876088 0.00001
NM_000180.4(GUCY2D):c.240C>A (p.Ala80=) rs979318508 0.00001
NM_000180.4(GUCY2D):c.2412+10T>C rs1446169314 0.00001
NM_000180.4(GUCY2D):c.2412+4A>C rs951825929 0.00001
NM_000180.4(GUCY2D):c.2432G>A (p.Gly811Asp) rs750247123 0.00001
NM_000180.4(GUCY2D):c.2439G>C (p.Lys813Asn) rs1477300555 0.00001
NM_000180.4(GUCY2D):c.2467A>T (p.Met823Leu) rs1264291406 0.00001
NM_000180.4(GUCY2D):c.2496G>A (p.Glu832=) rs1430681738 0.00001
NM_000180.4(GUCY2D):c.2507G>A (p.Arg836Gln) rs760126408 0.00001
NM_000180.4(GUCY2D):c.2509G>A (p.Glu837Lys) rs377594823 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000180.4(GUCY2D):c.2516C>T (p.Thr839Met) rs61750174 0.00001
NM_000180.4(GUCY2D):c.255C>T (p.Asn85=) rs1481027097 0.00001
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778 0.00001
NM_000180.4(GUCY2D):c.2576C>T (p.Pro859Leu) rs374515716 0.00001
NM_000180.4(GUCY2D):c.2578T>C (p.Ser860Pro) rs1214999566 0.00001
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn) rs201587670 0.00001
NM_000180.4(GUCY2D):c.2620G>A (p.Glu874Lys) rs1001538483 0.00001
NM_000180.4(GUCY2D):c.262C>A (p.Pro88Thr) rs1300514080 0.00001
NM_000180.4(GUCY2D):c.2682C>T (p.Ala894=) rs765266637 0.00001
NM_000180.4(GUCY2D):c.2683A>G (p.Met895Val) rs1180472258 0.00001
NM_000180.4(GUCY2D):c.270G>A (p.Leu90=) rs1411984596 0.00001
NM_000180.4(GUCY2D):c.2718C>T (p.Asn906=) rs1299729703 0.00001
NM_000180.4(GUCY2D):c.276C>T (p.Gly92=) rs1180162649 0.00001
NM_000180.4(GUCY2D):c.277G>A (p.Gly93Ser) rs749432012 0.00001
NM_000180.4(GUCY2D):c.2784G>C (p.Gly928=) rs763444638 0.00001
NM_000180.4(GUCY2D):c.2795T>G (p.Met932Arg) rs766418901 0.00001
NM_000180.4(GUCY2D):c.2804C>T (p.Ser935Leu) rs1236572248 0.00001
NM_000180.4(GUCY2D):c.2811G>A (p.Leu937=) rs759949982 0.00001
NM_000180.4(GUCY2D):c.2838G>A (p.Ala946=) rs143730352 0.00001
NM_000180.4(GUCY2D):c.2850C>A (p.Ala950=) rs750005559 0.00001
NM_000180.4(GUCY2D):c.2861T>C (p.Leu954Pro) rs61750182 0.00001
NM_000180.4(GUCY2D):c.2875G>A (p.Ala959Thr) rs768417052 0.00001
NM_000180.4(GUCY2D):c.2878G>A (p.Val960Met) rs781010216 0.00001
NM_000180.4(GUCY2D):c.2892C>G (p.Arg964=) rs151052136 0.00001
NM_000180.4(GUCY2D):c.2928C>T (p.Arg976=) rs761309365 0.00001
NM_000180.4(GUCY2D):c.2944+15T>G rs995953710 0.00001
NM_000180.4(GUCY2D):c.2944+18C>T rs553072849 0.00001
NM_000180.4(GUCY2D):c.2944+9C>T rs1309171387 0.00001
NM_000180.4(GUCY2D):c.2945-14C>T rs541055967 0.00001
NM_000180.4(GUCY2D):c.2945-18C>G rs573455326 0.00001
NM_000180.4(GUCY2D):c.295G>A (p.Ala99Thr) rs1304984076 0.00001
NM_000180.4(GUCY2D):c.296C>T (p.Ala99Val) rs1567957056 0.00001
NM_000180.4(GUCY2D):c.3012C>T (p.Asn1004=) rs563005151 0.00001
NM_000180.4(GUCY2D):c.3036C>T (p.Thr1012=) rs376759049 0.00001
NM_000180.4(GUCY2D):c.3043+14G>A rs1178871111 0.00001
NM_000180.4(GUCY2D):c.3065T>G (p.Leu1022Trp) rs866511152 0.00001
NM_000180.4(GUCY2D):c.3084C>G (p.Leu1028=) rs755088085 0.00001
NM_000180.4(GUCY2D):c.3138+6G>T rs937146348 0.00001
NM_000180.4(GUCY2D):c.3139-6C>A rs745511852 0.00001
NM_000180.4(GUCY2D):c.3179G>A (p.Arg1060His) rs563091520 0.00001
NM_000180.4(GUCY2D):c.3205C>T (p.Pro1069Ser) rs1187326101 0.00001
NM_000180.4(GUCY2D):c.3224+1G>C rs757823463 0.00001
NM_000180.4(GUCY2D):c.3229A>G (p.Ser1077Gly) rs1249600456 0.00001
NM_000180.4(GUCY2D):c.3237C>T (p.His1079=) rs529348303 0.00001
NM_000180.4(GUCY2D):c.3245G>C (p.Ser1082Thr) rs750743574 0.00001
NM_000180.4(GUCY2D):c.3283G>A (p.Glu1095Lys) rs1024155105 0.00001
NM_000180.4(GUCY2D):c.3291G>A (p.Ala1097=) rs1490101887 0.00001
NM_000180.4(GUCY2D):c.358C>T (p.Arg120Cys) rs1975671628 0.00001
NM_000180.4(GUCY2D):c.363G>A (p.Val121=) rs917247032 0.00001
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu) rs878853343 0.00001
NM_000180.4(GUCY2D):c.381G>A (p.Pro127=) rs1400180995 0.00001
NM_000180.4(GUCY2D):c.393G>A (p.Ala131=) rs1431229289 0.00001
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile) rs281865409 0.00001
NM_000180.4(GUCY2D):c.435C>A (p.Ile145=) rs904414208 0.00001
NM_000180.4(GUCY2D):c.54T>G (p.Gly18=) rs9905393 0.00001
NM_000180.4(GUCY2D):c.603G>C (p.Leu201=) rs369547545 0.00001
NM_000180.4(GUCY2D):c.621C>T (p.Ala207=) rs757257247 0.00001
NM_000180.4(GUCY2D):c.623G>A (p.Arg208Gln) rs765369504 0.00001
NM_000180.4(GUCY2D):c.652A>G (p.Met218Val) rs780953815 0.00001
NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter) rs1308509257 0.00001
NM_000180.4(GUCY2D):c.680G>A (p.Arg227Gln) rs770873775 0.00001
NM_000180.4(GUCY2D):c.696G>T (p.Lys232Asn) rs181800610 0.00001
NM_000180.4(GUCY2D):c.710C>A (p.Pro237His) rs765439946 0.00001
NM_000180.4(GUCY2D):c.722-12C>T rs760426420 0.00001
NM_000180.4(GUCY2D):c.722-17C>A rs1598144504 0.00001
NM_000180.4(GUCY2D):c.750G>A (p.Leu250=) rs777436847 0.00001
NM_000180.4(GUCY2D):c.777C>A (p.Leu259=) rs778378811 0.00001
NM_000180.4(GUCY2D):c.793G>A (p.Glu265Lys) rs1346762413 0.00001
NM_000180.4(GUCY2D):c.808G>A (p.Asp270Asn) rs763099634 0.00001
NM_000180.4(GUCY2D):c.81C>T (p.Pro27=) rs1361790718 0.00001
NM_000180.4(GUCY2D):c.866C>T (p.Pro289Leu) rs1350341897 0.00001
NC_000017.10:g.(?_7906366)_(7911370_?)del
NC_000017.10:g.(?_7906366)_(7912924_?)del
NC_000017.10:g.(?_7919041)_(7919848_?)del
NC_000017.11:g.(?_8002902)_(8016550_?)del
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.-2_3del (p.Met1fs) rs1451359371
NM_000180.4(GUCY2D):c.1000C>T (p.Leu334=)
NM_000180.4(GUCY2D):c.1005C>T (p.Pro335=)
NM_000180.4(GUCY2D):c.1008_1014del (p.Asp337fs)
NM_000180.4(GUCY2D):c.1009G>A (p.Asp337Asn)
NM_000180.4(GUCY2D):c.1012C>G (p.Leu338Val) rs2151799779
NM_000180.4(GUCY2D):c.1018C>G (p.Leu340Val)
NM_000180.4(GUCY2D):c.1026+11C>G
NM_000180.4(GUCY2D):c.1026+11C>T
NM_000180.4(GUCY2D):c.1026+12C>T
NM_000180.4(GUCY2D):c.1026+13G>A rs769017393
NM_000180.4(GUCY2D):c.1026+13G>C
NM_000180.4(GUCY2D):c.1026+20G>A
NM_000180.4(GUCY2D):c.1026+2T>C
NM_000180.4(GUCY2D):c.1026+7G>A
NM_000180.4(GUCY2D):c.1026+9T>C rs1975697140
NM_000180.4(GUCY2D):c.1027-12C>G
NM_000180.4(GUCY2D):c.1027-5T>A
NM_000180.4(GUCY2D):c.1027-7T>G rs780368194
NM_000180.4(GUCY2D):c.1027-7_1027-5del rs760494327
NM_000180.4(GUCY2D):c.1027G>T (p.Val343Phe)
NM_000180.4(GUCY2D):c.1031C>G (p.Ser344Cys) rs768812125
NM_000180.4(GUCY2D):c.1033C>G (p.Pro345Ala) rs755696904
NM_000180.4(GUCY2D):c.103C>G (p.Arg35Gly) rs1423033093
NM_000180.4(GUCY2D):c.104G>T (p.Arg35Leu) rs748156659
NM_000180.4(GUCY2D):c.1056C>T (p.Asp352=)
NM_000180.4(GUCY2D):c.1059G>A (p.Ala353=)
NM_000180.4(GUCY2D):c.105G>A (p.Arg35=)
NM_000180.4(GUCY2D):c.1060G>A (p.Val354Ile) rs758931689
NM_000180.4(GUCY2D):c.1069C>T (p.Leu357=)
NM_000180.4(GUCY2D):c.1072G>A (p.Ala358Thr)
NM_000180.4(GUCY2D):c.1073C>T (p.Ala358Val)
NM_000180.4(GUCY2D):c.1080C>T (p.Gly360=) rs1264540934
NM_000180.4(GUCY2D):c.1089_1113del (p.Glu363fs)
NM_000180.4(GUCY2D):c.1092G>A (p.Ala364=)
NM_000180.4(GUCY2D):c.1092G>T (p.Ala364=)
NM_000180.4(GUCY2D):c.1094G>A (p.Arg365Gln) rs141917297
NM_000180.4(GUCY2D):c.1101C>A (p.Ala367=)
NM_000180.4(GUCY2D):c.1101C>T (p.Ala367=)
NM_000180.4(GUCY2D):c.110C>G (p.Pro37Arg)
NM_000180.4(GUCY2D):c.1116G>A (p.Trp372Ter)
NM_000180.4(GUCY2D):c.1116_1119dup (p.Ser374fs)
NM_000180.4(GUCY2D):c.111G>A (p.Pro37=)
NM_000180.4(GUCY2D):c.1120T>G (p.Ser374Ala) rs749607771
NM_000180.4(GUCY2D):c.1122C>T (p.Ser374=)
NM_000180.4(GUCY2D):c.1123G>A (p.Gly375Arg)
NM_000180.4(GUCY2D):c.112C>T (p.Leu38Phe)
NM_000180.4(GUCY2D):c.1139G>A (p.Arg380His)
NM_000180.4(GUCY2D):c.1147C>A (p.Arg383=)
NM_000180.4(GUCY2D):c.1148G>T (p.Arg383Leu)
NM_000180.4(GUCY2D):c.1149_1155del (p.Asp384fs)
NM_000180.4(GUCY2D):c.1150del (p.Asp384fs)
NM_000180.4(GUCY2D):c.1155G>A (p.Ala385=) rs149722832
NM_000180.4(GUCY2D):c.1155G>T (p.Ala385=)
NM_000180.4(GUCY2D):c.1173C>T (p.Cys391=)
NM_000180.4(GUCY2D):c.1176G>C (p.Gly392=)
NM_000180.4(GUCY2D):c.1183G>A (p.Gly395Arg)
NM_000180.4(GUCY2D):c.1191C>T (p.Asp397=)
NM_000180.4(GUCY2D):c.1192G>A (p.Glu398Lys)
NM_000180.4(GUCY2D):c.11G>A (p.Cys4Tyr)
NM_000180.4(GUCY2D):c.1210C>G (p.Leu404Val)
NM_000180.4(GUCY2D):c.1221G>A (p.Thr407=)
NM_000180.4(GUCY2D):c.1229C>G (p.Ala410Gly)
NM_000180.4(GUCY2D):c.1229C>T (p.Ala410Val) rs773030462
NM_000180.4(GUCY2D):c.1230G>T (p.Ala410=)
NM_000180.4(GUCY2D):c.1234G>A (p.Asp412Asn)
NM_000180.4(GUCY2D):c.1238G>A (p.Arg413Gln) rs1253086014
NM_000180.4(GUCY2D):c.1242T>C (p.Leu414=)
NM_000180.4(GUCY2D):c.1245del (p.Phe415fs) rs1598146173
NM_000180.4(GUCY2D):c.1249A>T (p.Thr417Ser)
NM_000180.4(GUCY2D):c.1257G>T (p.Met419Ile) rs202111469
NM_000180.4(GUCY2D):c.1263T>A (p.Asp421Glu)
NM_000180.4(GUCY2D):c.1265C>T (p.Pro422Leu) rs2151800552
NM_000180.4(GUCY2D):c.1269C>T (p.Ala423=)
NM_000180.4(GUCY2D):c.126G>T (p.Leu42=)
NM_000180.4(GUCY2D):c.1270C>T (p.Arg424Trp)
NM_000180.4(GUCY2D):c.1275C>A (p.Gly425=) rs779783880
NM_000180.4(GUCY2D):c.1284C>A (p.Leu428=)
NM_000180.4(GUCY2D):c.1284C>T (p.Leu428=) rs769023061
NM_000180.4(GUCY2D):c.1287C>T (p.Ser429=) rs532466020
NM_000180.4(GUCY2D):c.1290C>A (p.Ala430=) rs141967896
NM_000180.4(GUCY2D):c.1290C>T (p.Ala430=) rs141967896
NM_000180.4(GUCY2D):c.1296C>G (p.Thr432=)
NM_000180.4(GUCY2D):c.1297C>T (p.Arg433Trp) rs769749617
NM_000180.4(GUCY2D):c.129T>C (p.Leu43=)
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.1305C>T (p.His435=) rs770719238
NM_000180.4(GUCY2D):c.1311G>A (p.Pro437=)
NM_000180.4(GUCY2D):c.1311G>C (p.Pro437=)
NM_000180.4(GUCY2D):c.1315G>C (p.Gly439Arg)
NM_000180.4(GUCY2D):c.1315G>T (p.Gly439Trp) rs140638938
NM_000180.4(GUCY2D):c.131TGC[1] (p.Leu45del) rs2151799258
NM_000180.4(GUCY2D):c.1320A>G (p.Gly440=) rs2151800598
NM_000180.4(GUCY2D):c.132G>A (p.Leu44=) rs1385302975
NM_000180.4(GUCY2D):c.1335T>C (p.Pro445=)
NM_000180.4(GUCY2D):c.1340C>T (p.Pro447Leu)
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.1343C>T (p.Ser448Leu) rs61749679
NM_000180.4(GUCY2D):c.1344G>A (p.Ser448=)
NM_000180.4(GUCY2D):c.1344G>T (p.Ser448=)
NM_000180.4(GUCY2D):c.1347C>T (p.Cys449=)
NM_000180.4(GUCY2D):c.1354G>C (p.Asp452His)
NM_000180.4(GUCY2D):c.1356T>G (p.Asp452Glu)
NM_000180.4(GUCY2D):c.1359A>G (p.Pro453=)
NM_000180.4(GUCY2D):c.1361_1367del (p.Asn454fs) rs2151800620
NM_000180.4(GUCY2D):c.1365C>T (p.Asn455=)
NM_000180.4(GUCY2D):c.1371C>A (p.Cys457Ter)
NM_000180.4(GUCY2D):c.1376G>A (p.Gly459Glu)
NM_000180.4(GUCY2D):c.1377_1378del (p.Gly460fs)
NM_000180.4(GUCY2D):c.1378+14C>T
NM_000180.4(GUCY2D):c.1378+15C>A
NM_000180.4(GUCY2D):c.1378+19G>C
NM_000180.4(GUCY2D):c.1378+20del
NM_000180.4(GUCY2D):c.1378+5G>A rs2151800630
NM_000180.4(GUCY2D):c.1378+5G>C rs2151800630
NM_000180.4(GUCY2D):c.1378+8C>A rs1457493139
NM_000180.4(GUCY2D):c.1378+8C>G
NM_000180.4(GUCY2D):c.1378+8C>T rs1457493139
NM_000180.4(GUCY2D):c.1378+9G>T rs1333086687
NM_000180.4(GUCY2D):c.1379-16G>A
NM_000180.4(GUCY2D):c.1379-16G>T
NM_000180.4(GUCY2D):c.1379-17T>C
NM_000180.4(GUCY2D):c.1379-19C>T
NM_000180.4(GUCY2D):c.1379-20T>G
NM_000180.4(GUCY2D):c.1379-5T>C
NM_000180.4(GUCY2D):c.1379-6C>T
NM_000180.4(GUCY2D):c.1389G>A (p.Pro463=)
NM_000180.4(GUCY2D):c.1394T>G (p.Leu465Arg)
NM_000180.4(GUCY2D):c.1395C>T (p.Leu465=)
NM_000180.4(GUCY2D):c.1396G>C (p.Val466Leu)
NM_000180.4(GUCY2D):c.139C>T (p.Pro47Ser)
NM_000180.4(GUCY2D):c.13G>A (p.Ala5Thr) rs1975657312
NM_000180.4(GUCY2D):c.1408T>C (p.Phe470Leu)
NM_000180.4(GUCY2D):c.140C>G (p.Pro47Arg)
NM_000180.4(GUCY2D):c.1416G>C (p.Leu472=)
NM_000180.4(GUCY2D):c.141C>G (p.Pro47=) rs1482857964
NM_000180.4(GUCY2D):c.1420G>A (p.Val474Ile)
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs) rs1598146589
NM_000180.4(GUCY2D):c.1446C>T (p.Phe482=)
NM_000180.4(GUCY2D):c.144C>G (p.Pro48=)
NM_000180.4(GUCY2D):c.144C>T (p.Pro48=)
NM_000180.4(GUCY2D):c.144dup (p.Ala49fs)
NM_000180.4(GUCY2D):c.1457A>G (p.Tyr486Cys)
NM_000180.4(GUCY2D):c.1458T>C (p.Tyr486=)
NM_000180.4(GUCY2D):c.145G>A (p.Ala49Thr)
NM_000180.4(GUCY2D):c.1463+16A>G
NM_000180.4(GUCY2D):c.1463+17G>A
NM_000180.4(GUCY2D):c.1463+8G>C
NM_000180.4(GUCY2D):c.1464-14T>G
NM_000180.4(GUCY2D):c.1464-15del rs761213112
NM_000180.4(GUCY2D):c.1464-19T>C
NM_000180.4(GUCY2D):c.1464-3C>G
NM_000180.4(GUCY2D):c.1464-4C>T
NM_000180.4(GUCY2D):c.1464-6C>T
NM_000180.4(GUCY2D):c.1464-7C>T
NM_000180.4(GUCY2D):c.1464-8T>C
NM_000180.4(GUCY2D):c.1472T>C (p.Leu491Pro)
NM_000180.4(GUCY2D):c.1479C>T (p.His493=) rs377622295
NM_000180.4(GUCY2D):c.1480A>G (p.Met494Val)
NM_000180.4(GUCY2D):c.1482G>A (p.Met494Ile) rs2151800878
NM_000180.4(GUCY2D):c.1489G>A (p.Val497Ile) rs767360120
NM_000180.4(GUCY2D):c.1489G>T (p.Val497Phe) rs767360120
NM_000180.4(GUCY2D):c.1497C>T (p.Gly499=)
NM_000180.4(GUCY2D):c.1501A>G (p.Asn501Asp) rs1975767998
NM_000180.4(GUCY2D):c.1503C>T (p.Asn501=)
NM_000180.4(GUCY2D):c.1506G>A (p.Lys502=)
NM_000180.4(GUCY2D):c.1517C>G (p.Thr506Ser)
NM_000180.4(GUCY2D):c.1518C>A (p.Thr506=)
NM_000180.4(GUCY2D):c.1522GAC[1] (p.Asp509del) rs879629840
NM_000180.4(GUCY2D):c.1527C>T (p.Asp509=)
NM_000180.4(GUCY2D):c.1542C>T (p.His514=)
NM_000180.4(GUCY2D):c.1544C>T (p.Pro515Leu) rs1975769511
NM_000180.4(GUCY2D):c.1556C>T (p.Thr519Ile) rs549834851
NM_000180.4(GUCY2D):c.1557C>T (p.Thr519=) rs1975769915
NM_000180.4(GUCY2D):c.1560T>C (p.Ser520=)
NM_000180.4(GUCY2D):c.1566+12A>C
NM_000180.4(GUCY2D):c.1566+12AG[2]
NM_000180.4(GUCY2D):c.1566+7G>A
NM_000180.4(GUCY2D):c.1567-13C>T
NM_000180.4(GUCY2D):c.1567-1G>C rs2151801050
NM_000180.4(GUCY2D):c.1567-20C>T
NM_000180.4(GUCY2D):c.1567-9A>G
NM_000180.4(GUCY2D):c.1572C>T (p.Ala524=)
NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter) rs1168076308
NM_000180.4(GUCY2D):c.1576G>A (p.Gly526Arg) rs1975777337
NM_000180.4(GUCY2D):c.1580G>A (p.Ser527Asn)
NM_000180.4(GUCY2D):c.1581T>C (p.Ser527=)
NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter) rs1349155167
NM_000180.4(GUCY2D):c.1593G>A (p.Leu531=)
NM_000180.4(GUCY2D):c.1595G>C (p.Gly532Ala)
NM_000180.4(GUCY2D):c.159G>A (p.Val53=)
NM_000180.4(GUCY2D):c.1601G>T (p.Arg534Leu)
NM_000180.4(GUCY2D):c.1619G>A (p.Arg540His) rs372005126
NM_000180.4(GUCY2D):c.1619G>T (p.Arg540Leu) rs372005126
NM_000180.4(GUCY2D):c.1620C>T (p.Arg540=)
NM_000180.4(GUCY2D):c.1626C>G (p.Gly542=)
NM_000180.4(GUCY2D):c.1626C>T (p.Gly542=)
NM_000180.4(GUCY2D):c.1627C>T (p.Pro543Ser)
NM_000180.4(GUCY2D):c.1647C>A (p.Ser549Arg)
NM_000180.4(GUCY2D):c.165G>A (p.Thr55=)
NM_000180.4(GUCY2D):c.1660G>A (p.Val554Ile) rs1975779836
NM_000180.4(GUCY2D):c.1668+11C>A
NM_000180.4(GUCY2D):c.1668+17C>A
NM_000180.4(GUCY2D):c.1668+17C>T
NM_000180.4(GUCY2D):c.1668+22_1668+25del
NM_000180.4(GUCY2D):c.1668+4A>T
NM_000180.4(GUCY2D):c.1669-13C>A
NM_000180.4(GUCY2D):c.1669-13C>T
NM_000180.4(GUCY2D):c.1669-14C>A
NM_000180.4(GUCY2D):c.1669-15T>A
NM_000180.4(GUCY2D):c.1669-17C>T
NM_000180.4(GUCY2D):c.1669-18C>A
NM_000180.4(GUCY2D):c.1669-18C>G
NM_000180.4(GUCY2D):c.1669-19C>G
NM_000180.4(GUCY2D):c.1669-5T>C
NM_000180.4(GUCY2D):c.1669-9_1669-8del rs757259115
NM_000180.4(GUCY2D):c.169G>C (p.Gly57Arg)
NM_000180.4(GUCY2D):c.16_19del (p.Arg6fs)
NM_000180.4(GUCY2D):c.1714G>C (p.Ala572Pro)
NM_000180.4(GUCY2D):c.1728A>G (p.Ala576=)
NM_000180.4(GUCY2D):c.1731C>A (p.Thr577=)
NM_000180.4(GUCY2D):c.1737G>A (p.Thr579=) rs761631031
NM_000180.4(GUCY2D):c.1748A>C (p.Lys583Thr)
NM_000180.4(GUCY2D):c.1749+14C>T rs2151801565
NM_000180.4(GUCY2D):c.1749+16G>A
NM_000180.4(GUCY2D):c.1749+1G>A rs2151801563
NM_000180.4(GUCY2D):c.1749G>C (p.Lys583Asn)
NM_000180.4(GUCY2D):c.174C>T (p.Val58=)
NM_000180.4(GUCY2D):c.1750-12_1752del
NM_000180.4(GUCY2D):c.1750-12dup
NM_000180.4(GUCY2D):c.1750-16A>G rs772221900
NM_000180.4(GUCY2D):c.1750-16A>T
NM_000180.4(GUCY2D):c.1750-5C>T rs2151802315
NM_000180.4(GUCY2D):c.1750-6T>C
NM_000180.4(GUCY2D):c.1752C>A (p.Leu584=)
NM_000180.4(GUCY2D):c.1753C>T (p.Gln585Ter)
NM_000180.4(GUCY2D):c.1759C>G (p.Leu587Val)
NM_000180.4(GUCY2D):c.1759C>T (p.Leu587Phe)
NM_000180.4(GUCY2D):c.175del (p.Leu59fs) rs2151799287
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.1766A>G (p.His589Arg) rs2151802328
NM_000180.4(GUCY2D):c.1770G>T (p.Glu590Asp)
NM_000180.4(GUCY2D):c.1771A>G (p.Asn591Asp) rs1975862803
NM_000180.4(GUCY2D):c.1773del (p.Asn591fs) rs794727952
NM_000180.4(GUCY2D):c.1774G>A (p.Val592Met) rs373362030
NM_000180.4(GUCY2D):c.1779C>T (p.Ala593=)
NM_000180.4(GUCY2D):c.177G>T (p.Leu59=)
NM_000180.4(GUCY2D):c.1780C>T (p.Leu594Phe)
NM_000180.4(GUCY2D):c.1780_1783del (p.Leu594fs)
NM_000180.4(GUCY2D):c.1781T>A (p.Leu594His)
NM_000180.4(GUCY2D):c.1784_1787del (p.Tyr595fs)
NM_000180.4(GUCY2D):c.1787T>A (p.Leu596Gln)
NM_000180.4(GUCY2D):c.1791G>A (p.Gly597=)
NM_000180.4(GUCY2D):c.1802C>T (p.Ala601Val)
NM_000180.4(GUCY2D):c.1804C>A (p.Arg602=)
NM_000180.4(GUCY2D):c.1804C>T (p.Arg602Trp) rs770740012
NM_000180.4(GUCY2D):c.1817G>A (p.Gly606Asp) rs1451847992
NM_000180.4(GUCY2D):c.1821_1824dup (p.Ala609fs)
NM_000180.4(GUCY2D):c.1825G>A (p.Ala609Thr) rs1009884304
NM_000180.4(GUCY2D):c.1827C>T (p.Ala609=)
NM_000180.4(GUCY2D):c.1828C>G (p.Leu610Val)
NM_000180.4(GUCY2D):c.1838G>T (p.Gly613Val) rs2151802372
NM_000180.4(GUCY2D):c.1841A>C (p.Asn614Thr) rs1975865453
NM_000180.4(GUCY2D):c.1841A>G (p.Asn614Ser) rs1975865453
NM_000180.4(GUCY2D):c.1842C>T (p.Asn614=)
NM_000180.4(GUCY2D):c.1843C>G (p.Leu615Val)
NM_000180.4(GUCY2D):c.1847C>T (p.Ala616Val)
NM_000180.4(GUCY2D):c.1854C>T (p.Val618=) rs2151802387
NM_000180.4(GUCY2D):c.185G>A (p.Trp62Ter)
NM_000180.4(GUCY2D):c.1863C>T (p.His621=)
NM_000180.4(GUCY2D):c.1865G>T (p.Cys622Phe)
NM_000180.4(GUCY2D):c.1868C>G (p.Thr623Arg)
NM_000180.4(GUCY2D):c.186G>A (p.Trp62Ter)
NM_000180.4(GUCY2D):c.1893C>A (p.Leu631=) rs763522643
NM_000180.4(GUCY2D):c.1894G>A (p.Ala632Thr)
NM_000180.4(GUCY2D):c.1904A>G (p.Glu635Gly) rs1975867670
NM_000180.4(GUCY2D):c.1915G>T (p.Asp639Tyr)
NM_000180.4(GUCY2D):c.1935C>T (p.Ser645=)
NM_000180.4(GUCY2D):c.1947C>T (p.Asp649=)
NM_000180.4(GUCY2D):c.1953C>T (p.Ile651=)
NM_000180.4(GUCY2D):c.1956+11G>A
NM_000180.4(GUCY2D):c.1956+11G>C
NM_000180.4(GUCY2D):c.1956+13G>A
NM_000180.4(GUCY2D):c.1956+14G>T
NM_000180.4(GUCY2D):c.1956+15del
NM_000180.4(GUCY2D):c.1956+19T>G
NM_000180.4(GUCY2D):c.1956+7G>A
NM_000180.4(GUCY2D):c.1957-11C>T
NM_000180.4(GUCY2D):c.1957-17A>G
NM_000180.4(GUCY2D):c.1957-2A>G rs945734402
NM_000180.4(GUCY2D):c.1957-7T>C
NM_000180.4(GUCY2D):c.1957-9C>A
NM_000180.4(GUCY2D):c.1957-9C>G
NM_000180.4(GUCY2D):c.195C>T (p.Asp65=)
NM_000180.4(GUCY2D):c.1960A>C (p.Ile654Leu)
NM_000180.4(GUCY2D):c.1976A>G (p.His659Arg)
NM_000180.4(GUCY2D):c.1977T>C (p.His659=)
NM_000180.4(GUCY2D):c.1978C>G (p.Arg660Gly) rs61750161
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val) rs1424348888
NM_000180.4(GUCY2D):c.2015G>A (p.Cys672Tyr) rs1975873821
NM_000180.4(GUCY2D):c.2052C>A (p.Asp684Glu) rs935195316
NM_000180.4(GUCY2D):c.2067A>G (p.Arg689=)
NM_000180.4(GUCY2D):c.2073G>A (p.Leu691=)
NM_000180.4(GUCY2D):c.2076A>G (p.Glu692=)
NM_000180.4(GUCY2D):c.207T>C (p.Ser69=)
NM_000180.4(GUCY2D):c.207T>G (p.Ser69=)
NM_000180.4(GUCY2D):c.2080C>T (p.Gln694Ter)
NM_000180.4(GUCY2D):c.2082G>A (p.Gln694=)
NM_000180.4(GUCY2D):c.2093C>G (p.Pro698Arg) rs200128473
NM_000180.4(GUCY2D):c.209G>C (p.Arg70Pro)
NM_000180.4(GUCY2D):c.2103C>T (p.Pro701=)
NM_000180.4(GUCY2D):c.2107G>A (p.Ala703Thr) rs1270111845
NM_000180.4(GUCY2D):c.2112G>A (p.Glu704=)
NM_000180.4(GUCY2D):c.2113+10C>T rs1975877852
NM_000180.4(GUCY2D):c.2113+13T>C
NM_000180.4(GUCY2D):c.2113+1G>A
NM_000180.4(GUCY2D):c.2113+9C>A rs201717870
NM_000180.4(GUCY2D):c.2113+9C>T
NM_000180.4(GUCY2D):c.2113G>T (p.Asp705Tyr) rs1434526446
NM_000180.4(GUCY2D):c.2114-14T>C
NM_000180.4(GUCY2D):c.2114-15C>T
NM_000180.4(GUCY2D):c.2114-17C>A
NM_000180.4(GUCY2D):c.2114-17C>T rs770587800
NM_000180.4(GUCY2D):c.2114-17_2114-16delinsTT rs2151802757
NM_000180.4(GUCY2D):c.2114-18C>A
NM_000180.4(GUCY2D):c.2114-7T>A
NM_000180.4(GUCY2D):c.2114-8A>C
NM_000180.4(GUCY2D):c.2114-8A>G
NM_000180.4(GUCY2D):c.2114-9del rs2151802761
NM_000180.4(GUCY2D):c.2122T>C (p.Trp708Arg) rs1064797217
NM_000180.4(GUCY2D):c.2127A>G (p.Thr709=) rs2151802773
NM_000180.4(GUCY2D):c.2133G>A (p.Pro711=)
NM_000180.4(GUCY2D):c.2142T>G (p.Leu714=)
NM_000180.4(GUCY2D):c.2145G>A (p.Arg715=)
NM_000180.4(GUCY2D):c.2153C>G (p.Ala718Gly) rs2151802784
NM_000180.4(GUCY2D):c.2157G>A (p.Leu719=) rs2151802788
NM_000180.4(GUCY2D):c.2163C>T (p.Arg721=)
NM_000180.4(GUCY2D):c.216C>T (p.Arg72=)
NM_000180.4(GUCY2D):c.2176G>A (p.Ala726Thr) rs1459595665
NM_000180.4(GUCY2D):c.2181C>T (p.Gly727=) rs140628227
NM_000180.4(GUCY2D):c.2185G>A (p.Val729Ile)
NM_000180.4(GUCY2D):c.2190T>A (p.Phe730Leu)
NM_000180.4(GUCY2D):c.2190T>C (p.Phe730=)
NM_000180.4(GUCY2D):c.2193C>T (p.Ser731=)
NM_000180.4(GUCY2D):c.2204T>C (p.Ile735Thr) rs1975891409
NM_000180.4(GUCY2D):c.2206A>G (p.Met736Val) rs2151802824
NM_000180.4(GUCY2D):c.2207T>C (p.Met736Thr)
NM_000180.4(GUCY2D):c.2209C>T (p.Gln737Ter) rs2151802829
NM_000180.4(GUCY2D):c.2224C>T (p.Arg742Cys) rs532577225
NM_000180.4(GUCY2D):c.2238T>C (p.Tyr746=)
NM_000180.4(GUCY2D):c.2241C>T (p.Ala747=) rs2151802845
NM_000180.4(GUCY2D):c.2259C>T (p.Pro753=)
NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter) rs747951577
NM_000180.4(GUCY2D):c.2263+1G>A
NM_000180.4(GUCY2D):c.2263+20G>A
NM_000180.4(GUCY2D):c.2264-10A>G rs1975905316
NM_000180.4(GUCY2D):c.2264-11C>T
NM_000180.4(GUCY2D):c.2264-14C>T
NM_000180.4(GUCY2D):c.2264-18G>C
NM_000180.4(GUCY2D):c.2264-1G>A
NM_000180.4(GUCY2D):c.2264-7C>A
NM_000180.4(GUCY2D):c.2266GTG[1] (p.Val757del) rs2151803037
NM_000180.4(GUCY2D):c.2280G>T (p.Val760=)
NM_000180.4(GUCY2D):c.2286C>T (p.Ser762=)
NM_000180.4(GUCY2D):c.228C>T (p.Ala76=) rs1309007524
NM_000180.4(GUCY2D):c.2290C>G (p.Pro764Ala)
NM_000180.4(GUCY2D):c.2290C>T (p.Pro764Ser) rs1975906957
NM_000180.4(GUCY2D):c.2291del (p.Pro764fs)
NM_000180.4(GUCY2D):c.2291dup (p.Pro765fs)
NM_000180.4(GUCY2D):c.2292T>C (p.Pro764=) rs1393165151
NM_000180.4(GUCY2D):c.2301T>C (p.Cys767=) rs2151803063
NM_000180.4(GUCY2D):c.2304G>A (p.Arg768=)
NM_000180.4(GUCY2D):c.2307C>G (p.Pro769=)
NM_000180.4(GUCY2D):c.2312T>A (p.Val771Glu) rs2151803073
NM_000180.4(GUCY2D):c.2313G>A (p.Val771=)
NM_000180.4(GUCY2D):c.2323C>T (p.Gln775Ter)
NM_000180.4(GUCY2D):c.2326G>A (p.Ala776Thr)
NM_000180.4(GUCY2D):c.232_243dup (p.Arg78_Ala81dup) rs1975666989
NM_000180.4(GUCY2D):c.2335G>A (p.Glu779Lys)
NM_000180.4(GUCY2D):c.2339G>A (p.Cys780Tyr) rs1187359735
NM_000180.4(GUCY2D):c.2343C>T (p.Ile781=)
NM_000180.4(GUCY2D):c.2345_2346delinsAT (p.Leu782His)
NM_000180.4(GUCY2D):c.2348T>C (p.Leu783Pro) rs1166312966
NM_000180.4(GUCY2D):c.2351T>C (p.Met784Thr)
NM_000180.4(GUCY2D):c.2354A>C (p.Lys785Thr)
NM_000180.4(GUCY2D):c.235C>T (p.Leu79=)
NM_000180.4(GUCY2D):c.2375C>T (p.Pro792Leu)
NM_000180.4(GUCY2D):c.2376G>A (p.Pro792=) rs770484034
NM_000180.4(GUCY2D):c.2376G>C (p.Pro792=) rs770484034
NM_000180.4(GUCY2D):c.2377G>A (p.Glu793Lys)
NM_000180.4(GUCY2D):c.238_252dup (p.Ala80_Leu84dup) rs952193754
NM_000180.4(GUCY2D):c.2392A>G (p.Met798Val) rs1975911307
NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs) rs1975911430
NM_000180.4(GUCY2D):c.239C>T (p.Ala80Val)
NM_000180.4(GUCY2D):c.2400C>T (p.His800=)
NM_000180.4(GUCY2D):c.2402C>A (p.Thr801Asn)
NM_000180.4(GUCY2D):c.2409C>T (p.Asp803=)
NM_000180.4(GUCY2D):c.2412+11G>A
NM_000180.4(GUCY2D):c.2412+13G>A
NM_000180.4(GUCY2D):c.2412+16T>A
NM_000180.4(GUCY2D):c.2412+2T>C rs2151803131
NM_000180.4(GUCY2D):c.2412+8G>A
NM_000180.4(GUCY2D):c.2412+8G>C
NM_000180.4(GUCY2D):c.2412G>T (p.Leu804=)
NM_000180.4(GUCY2D):c.2413-12T>C
NM_000180.4(GUCY2D):c.2413-13C>T
NM_000180.4(GUCY2D):c.2413-14C>G
NM_000180.4(GUCY2D):c.2413-18G>T
NM_000180.4(GUCY2D):c.2413-4C>T
NM_000180.4(GUCY2D):c.2413-6T>C
NM_000180.4(GUCY2D):c.2421C>T (p.Asn807=)
NM_000180.4(GUCY2D):c.2431G>A (p.Gly811Ser) rs1196292120
NM_000180.4(GUCY2D):c.2434C>G (p.Arg812Gly) rs894774212
NM_000180.4(GUCY2D):c.2434C>T (p.Arg812Trp)
NM_000180.4(GUCY2D):c.2442G>A (p.Thr814=)
NM_000180.4(GUCY2D):c.2450T>C (p.Ile817Thr)
NM_000180.4(GUCY2D):c.2457G>A (p.Ser819=)
NM_000180.4(GUCY2D):c.2464C>T (p.Arg822Trp)
NM_000180.4(GUCY2D):c.2465G>A (p.Arg822Gln)
NM_000180.4(GUCY2D):c.2465G>C (p.Arg822Pro) rs398123233
NM_000180.4(GUCY2D):c.2473G>A (p.Glu825Lys)
NM_000180.4(GUCY2D):c.2475G>A (p.Glu825=)
NM_000180.4(GUCY2D):c.2476C>T (p.Gln826Ter) rs1338490917
NM_000180.4(GUCY2D):c.2479T>G (p.Tyr827Asp) rs2151803325
NM_000180.4(GUCY2D):c.2480A>G (p.Tyr827Cys) rs1975925661
NM_000180.4(GUCY2D):c.2491C>T (p.Leu831=) rs771641368
NM_000180.4(GUCY2D):c.2492T>C (p.Leu831Pro) rs1975925973
NM_000180.4(GUCY2D):c.2493G>A (p.Leu831=)
NM_000180.4(GUCY2D):c.2494G>A (p.Glu832Lys) rs1975926150
NM_000180.4(GUCY2D):c.2505C>T (p.Ile835=) rs1216216065
NM_000180.4(GUCY2D):c.2509del (p.Glu837fs)
NM_000180.4(GUCY2D):c.2512C>A (p.Arg838Ser) rs61750172
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2513G>C (p.Arg838Pro) rs61750173
NM_000180.4(GUCY2D):c.2514C>T (p.Arg838=)
NM_000180.4(GUCY2D):c.2515A>C (p.Thr839Pro)
NM_000180.4(GUCY2D):c.2516C>G (p.Thr839Arg) rs61750174
NM_000180.4(GUCY2D):c.2516del (p.Thr839fs) rs756044745
NM_000180.4(GUCY2D):c.2517G>C (p.Thr839=)
NM_000180.4(GUCY2D):c.2523GCTGGA[3] (p.Glu845_Lys846insLeuGlu)
NM_000180.4(GUCY2D):c.2526G>A (p.Leu842=)
NM_000180.4(GUCY2D):c.2531T>C (p.Leu844Pro) rs962715477
NM_000180.4(GUCY2D):c.2538G>C (p.Lys846Asn) rs1598150539
NM_000180.4(GUCY2D):c.2544G>A (p.Lys848=)
NM_000180.4(GUCY2D):c.2545A>G (p.Thr849Ala) rs2151803362
NM_000180.4(GUCY2D):c.2550C>T (p.Asp850=)
NM_000180.4(GUCY2D):c.2556G>A (p.Leu852=)
NM_000180.4(GUCY2D):c.2562A>G (p.Thr854=)
NM_000180.4(GUCY2D):c.2572C>A (p.Pro858Thr) rs61750176
NM_000180.4(GUCY2D):c.2576+15G>A
NM_000180.4(GUCY2D):c.2576+1G>A
NM_000180.4(GUCY2D):c.2576+20G>A rs1975929620
NM_000180.4(GUCY2D):c.2576+7G>T
NM_000180.4(GUCY2D):c.2577-11G>A
NM_000180.4(GUCY2D):c.2577-2A>G
NM_000180.4(GUCY2D):c.2577-6C>T
NM_000180.4(GUCY2D):c.2592C>T (p.Ala864=)
NM_000180.4(GUCY2D):c.2600C>A (p.Thr867Lys) rs375727197
NM_000180.4(GUCY2D):c.2601G>A (p.Thr867=) rs760202269
NM_000180.4(GUCY2D):c.260A>C (p.Asp87Ala)
NM_000180.4(GUCY2D):c.2613G>A (p.Val871=)
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg) rs1567961680
NM_000180.4(GUCY2D):c.2619C>T (p.Pro873=)
NM_000180.4(GUCY2D):c.261C>T (p.Asp87=) rs1392838271
NM_000180.4(GUCY2D):c.2624A>G (p.Tyr875Cys) rs1300820031
NM_000180.4(GUCY2D):c.2626T>A (p.Phe876Ile)
NM_000180.4(GUCY2D):c.2628T>C (p.Phe876=)
NM_000180.4(GUCY2D):c.2632C>T (p.Gln878Ter)
NM_000180.4(GUCY2D):c.2634A>G (p.Gln878=)
NM_000180.4(GUCY2D):c.2641C>T (p.Leu881=)
NM_000180.4(GUCY2D):c.2646C>G (p.Tyr882Ter) rs1567961697
NM_000180.4(GUCY2D):c.2649del (p.Phe883fs) rs1598150748
NM_000180.4(GUCY2D):c.264C>A (p.Pro88=)
NM_000180.4(GUCY2D):c.264C>T (p.Pro88=) rs756121043
NM_000180.4(GUCY2D):c.2655C>T (p.Asp885=)
NM_000180.4(GUCY2D):c.2659G>T (p.Val887Leu)
NM_000180.4(GUCY2D):c.2667C>T (p.Phe889=)
NM_000180.4(GUCY2D):c.2674A>G (p.Ile892Val) rs1165720101
NM_000180.4(GUCY2D):c.2678_2679del (p.Ser893fs)
NM_000180.4(GUCY2D):c.267C>T (p.Gly89=)
NM_000180.4(GUCY2D):c.2685G>A (p.Met895Ile)
NM_000180.4(GUCY2D):c.2700G>A (p.Glu900=) rs1379084211
NM_000180.4(GUCY2D):c.2707G>T (p.Asp903Tyr) rs1975936032
NM_000180.4(GUCY2D):c.2710C>T (p.Leu904=)
NM_000180.4(GUCY2D):c.272C>A (p.Ala91Glu)
NM_000180.4(GUCY2D):c.2730dup (p.Leu911fs)
NM_000180.4(GUCY2D):c.2735_2736del (p.Leu911_Phe912insTer)
NM_000180.4(GUCY2D):c.2746A>G (p.Ile916Val)
NM_000180.4(GUCY2D):c.2749G>T (p.Gly917Cys)
NM_000180.4(GUCY2D):c.2769+14G>C
NM_000180.4(GUCY2D):c.2769+15G>C
NM_000180.4(GUCY2D):c.2769+16G>C
NM_000180.4(GUCY2D):c.2769+16del
NM_000180.4(GUCY2D):c.2769+1G>A
NM_000180.4(GUCY2D):c.2769+8G>A
NM_000180.4(GUCY2D):c.2769+9T>G
NM_000180.4(GUCY2D):c.2770-10C>T
NM_000180.4(GUCY2D):c.2770-13C>T
NM_000180.4(GUCY2D):c.2770-14_2770-12del
NM_000180.4(GUCY2D):c.2770-16C>T rs1975942786
NM_000180.4(GUCY2D):c.2770-20A>C
NM_000180.4(GUCY2D):c.2770-34_2925del
NM_000180.4(GUCY2D):c.2770-4C>G
NM_000180.4(GUCY2D):c.2770-4C>T
NM_000180.4(GUCY2D):c.2770-7C>A
NM_000180.4(GUCY2D):c.2770-9_2770-7del
NM_000180.4(GUCY2D):c.2775G>A (p.Glu925=)
NM_000180.4(GUCY2D):c.2779A>G (p.Ile927Val) rs1975943872
NM_000180.4(GUCY2D):c.277G>C (p.Gly93Arg) rs749432012
NM_000180.4(GUCY2D):c.2788G>A (p.Ala930Thr) rs1370972064
NM_000180.4(GUCY2D):c.2805G>A (p.Ser935=)
NM_000180.4(GUCY2D):c.2808G>C (p.Gly936=)
NM_000180.4(GUCY2D):c.2813C>G (p.Pro938Arg) rs1975945188
NM_000180.4(GUCY2D):c.2823T>C (p.Asn941=)
NM_000180.4(GUCY2D):c.2830C>G (p.Arg944Gly) rs756575304
NM_000180.4(GUCY2D):c.2835C>T (p.His945=)
NM_000180.4(GUCY2D):c.2837C>A (p.Ala946Glu) rs61750180
NM_000180.4(GUCY2D):c.2838G>C (p.Ala946=)
NM_000180.4(GUCY2D):c.2842G>A (p.Glu948Lys) rs2151803652
NM_000180.4(GUCY2D):c.2845A>C (p.Ile949Leu)
NM_000180.4(GUCY2D):c.284G>C (p.Arg95Pro) rs1285198149
NM_000180.4(GUCY2D):c.2859A>T (p.Ser953=)
NM_000180.4(GUCY2D):c.2860C>T (p.Leu954=)
NM_000180.4(GUCY2D):c.2871C>A (p.Leu957=)
NM_000180.4(GUCY2D):c.2871del (p.Ser958fs) rs2151803659
NM_000180.4(GUCY2D):c.2877C>A (p.Ala959=)
NM_000180.4(GUCY2D):c.2877C>T (p.Ala959=)
NM_000180.4(GUCY2D):c.2878G>C (p.Val960Leu)
NM_000180.4(GUCY2D):c.2881G>C (p.Gly961Arg) rs2151803673
NM_000180.4(GUCY2D):c.2882G>T (p.Gly961Val)
NM_000180.4(GUCY2D):c.2892C>A (p.Arg964=)
NM_000180.4(GUCY2D):c.2896C>G (p.Arg966Gly) rs933256547
NM_000180.4(GUCY2D):c.2897G>A (p.Arg966His)
NM_000180.4(GUCY2D):c.2899del (p.His967fs) rs61750183
NM_000180.4(GUCY2D):c.289G>A (p.Glu97Lys)
NM_000180.4(GUCY2D):c.2900A>G (p.His967Arg)
NM_000180.4(GUCY2D):c.2904G>T (p.Met968Ile) rs1975948376
NM_000180.4(GUCY2D):c.2916C>T (p.Pro972=)
NM_000180.4(GUCY2D):c.2917G>A (p.Val973Met)
NM_000180.4(GUCY2D):c.2928C>A (p.Arg976=) rs761309365
NM_000180.4(GUCY2D):c.2929A>T (p.Ile977Leu)
NM_000180.4(GUCY2D):c.2933G>A (p.Gly978Asp) rs754320374
NM_000180.4(GUCY2D):c.2933G>C (p.Gly978Ala)
NM_000180.4(GUCY2D):c.2933G>T (p.Gly978Val) rs754320374
NM_000180.4(GUCY2D):c.2938C>T (p.His980Tyr)
NM_000180.4(GUCY2D):c.2944+10G>C rs779480027
NM_000180.4(GUCY2D):c.2944+11G>A
NM_000180.4(GUCY2D):c.2944+14_2944+23dup
NM_000180.4(GUCY2D):c.2944+17C>G
NM_000180.4(GUCY2D):c.2944+18C>G
NM_000180.4(GUCY2D):c.2944+19_2944+26del
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.2944+7C>T
NM_000180.4(GUCY2D):c.2945-11C>A
NM_000180.4(GUCY2D):c.2945-15C>T rs1975955681
NM_000180.4(GUCY2D):c.2945-16C>A
NM_000180.4(GUCY2D):c.2945-18C>A
NM_000180.4(GUCY2D):c.2945-7_2945-6del rs754170656
NM_000180.4(GUCY2D):c.2946T>A (p.Gly982=)
NM_000180.4(GUCY2D):c.2946T>C (p.Gly982=) rs1290360925
NM_000180.4(GUCY2D):c.2950T>C (p.Cys984Arg) rs1975956164
NM_000180.4(GUCY2D):c.2952C>A (p.Cys984Ter)
NM_000180.4(GUCY2D):c.295G>T (p.Ala99Ser) rs1304984076
NM_000180.4(GUCY2D):c.2961C>A (p.Gly987=) rs140936694
NM_000180.4(GUCY2D):c.2961C>T (p.Gly987=)
NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter) rs1975957350
NM_000180.4(GUCY2D):c.2992C>T (p.Leu998=)
NM_000180.4(GUCY2D):c.2994G>A (p.Leu998=)
NM_000180.4(GUCY2D):c.2997del (p.Phe999fs) rs1975957618
NM_000180.4(GUCY2D):c.3005C>T (p.Thr1002Met) rs1462685344
NM_000180.4(GUCY2D):c.3009C>T (p.Val1003=) rs1322441705
NM_000180.4(GUCY2D):c.3015C>T (p.Thr1005=)
NM_000180.4(GUCY2D):c.3018C>G (p.Ala1006=)
NM_000180.4(GUCY2D):c.3018C>T (p.Ala1006=)
NM_000180.4(GUCY2D):c.3020C>T (p.Ser1007Leu)
NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg) rs868612148
NM_000180.4(GUCY2D):c.3038G>A (p.Gly1013Glu) rs1975959442
NM_000180.4(GUCY2D):c.3043+11C>A
NM_000180.4(GUCY2D):c.3043+11C>T rs116870332
NM_000180.4(GUCY2D):c.3043+12G>A
NM_000180.4(GUCY2D):c.3043+14G>C
NM_000180.4(GUCY2D):c.3043+15del
NM_000180.4(GUCY2D):c.3043+17_3043+27dup
NM_000180.4(GUCY2D):c.3044-10A>G
NM_000180.4(GUCY2D):c.3044-20G>A
NM_000180.4(GUCY2D):c.3044-5C>T
NM_000180.4(GUCY2D):c.3051C>A (p.Arg1017=)
NM_000180.4(GUCY2D):c.3054C>A (p.Ile1018=) rs2151803924
NM_000180.4(GUCY2D):c.3057C>T (p.His1019=) rs780426461
NM_000180.4(GUCY2D):c.305C>A (p.Pro102His)
NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter) rs866511152
NM_000180.4(GUCY2D):c.3067A>G (p.Ser1023Gly)
NM_000180.4(GUCY2D):c.306C>A (p.Pro102=)
NM_000180.4(GUCY2D):c.306C>T (p.Pro102=)
NM_000180.4(GUCY2D):c.3074_3075del (p.Val1025fs)
NM_000180.4(GUCY2D):c.3085C>T (p.Arg1029Cys)
NM_000180.4(GUCY2D):c.308A>T (p.Glu103Val)
NM_000180.4(GUCY2D):c.309G>A (p.Glu103=)
NM_000180.4(GUCY2D):c.3101G>A (p.Gly1034Asp)
NM_000180.4(GUCY2D):c.3105C>G (p.Tyr1035Ter) rs1975964112
NM_000180.4(GUCY2D):c.3106C>A (p.Gln1036Lys) rs61750192
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter) rs61750194
NM_000180.4(GUCY2D):c.3118_3125delinsAAGGTGAGGTAC (p.Arg1040fs)
NM_000180.4(GUCY2D):c.3122G>A (p.Gly1041Asp) rs1975964730
NM_000180.4(GUCY2D):c.3125G>A (p.Arg1042His)
NM_000180.4(GUCY2D):c.3126C>T (p.Arg1042=)
NM_000180.4(GUCY2D):c.3128C>T (p.Thr1043Met) rs1289590584
NM_000180.4(GUCY2D):c.3129G>C (p.Thr1043=)
NM_000180.4(GUCY2D):c.3133C>T (p.Leu1045=)
NM_000180.4(GUCY2D):c.3137A>G (p.Lys1046Arg)
NM_000180.4(GUCY2D):c.3138+17A>G
NM_000180.4(GUCY2D):c.3139-13C>T
NM_000180.4(GUCY2D):c.3139-14C>T
NM_000180.4(GUCY2D):c.3139-3C>G rs771769796
NM_000180.4(GUCY2D):c.3139-4C>T
NM_000180.4(GUCY2D):c.3139-7dup
NM_000180.4(GUCY2D):c.3140G>A (p.Gly1047Asp)
NM_000180.4(GUCY2D):c.3144G>A (p.Lys1048=) rs1406899978
NM_000180.4(GUCY2D):c.3147C>G (p.Gly1049=)
NM_000180.4(GUCY2D):c.3148G>T (p.Ala1050Ser) rs1221467842
NM_000180.4(GUCY2D):c.3150C>T (p.Ala1050=)
NM_000180.4(GUCY2D):c.3151G>A (p.Glu1051Lys) rs1273973537
NM_000180.4(GUCY2D):c.3167T>C (p.Leu1056Pro) rs2151804090
NM_000180.4(GUCY2D):c.317G>T (p.Arg106Leu)
NM_000180.4(GUCY2D):c.3186C>T (p.Phe1062=)
NM_000180.4(GUCY2D):c.3188A>G (p.Asn1063Ser) rs1975972260
NM_000180.4(GUCY2D):c.3198C>T (p.Ile1066=)
NM_000180.4(GUCY2D):c.319A>G (p.Thr107Ala) rs2151799362
NM_000180.4(GUCY2D):c.3200C>A (p.Pro1067His)
NM_000180.4(GUCY2D):c.3207G>A (p.Pro1069=)
NM_000180.4(GUCY2D):c.3219A>G (p.Gln1073=)
NM_000180.4(GUCY2D):c.321G>T (p.Thr107=) rs2151799365
NM_000180.4(GUCY2D):c.3222G>A (p.Pro1074=)
NM_000180.4(GUCY2D):c.3224+11_3224+44del
NM_000180.4(GUCY2D):c.3224+16C>A
NM_000180.4(GUCY2D):c.3224+20G>A
NM_000180.4(GUCY2D):c.3224+3G>T rs1258995063
NM_000180.4(GUCY2D):c.3224+6G>A
NM_000180.4(GUCY2D):c.3224+7G>A rs2151804152
NM_000180.4(GUCY2D):c.3225-10C>G
NM_000180.4(GUCY2D):c.3225-10del rs750454050
NM_000180.4(GUCY2D):c.3225-11C>A
NM_000180.4(GUCY2D):c.3225-11C>G
NM_000180.4(GUCY2D):c.3225-11C>T rs1261330161
NM_000180.4(GUCY2D):c.3225-12C>G rs999074662
NM_000180.4(GUCY2D):c.3225-14C>A rs1351613687
NM_000180.4(GUCY2D):c.3225-16C>G
NM_000180.4(GUCY2D):c.3225-19C>T
NM_000180.4(GUCY2D):c.3225-2A>T
NM_000180.4(GUCY2D):c.3225-8C>T
NM_000180.4(GUCY2D):c.3228C>T (p.Ser1076=)
NM_000180.4(GUCY2D):c.3234C>T (p.Asn1078=)
NM_000180.4(GUCY2D):c.323C>T (p.Pro108Leu) rs2151799367
NM_000180.4(GUCY2D):c.324G>T (p.Pro108=)
NM_000180.4(GUCY2D):c.3258C>G (p.Ile1086Met)
NM_000180.4(GUCY2D):c.325G>T (p.Gly109Cys)
NM_000180.4(GUCY2D):c.3264C>G (p.Pro1088=)
NM_000180.4(GUCY2D):c.3265G>A (p.Glu1089Lys) rs779735498
NM_000180.4(GUCY2D):c.3265G>C (p.Glu1089Gln)
NM_000180.4(GUCY2D):c.3268C>T (p.Arg1090Trp)
NM_000180.4(GUCY2D):c.3269G>A (p.Arg1090Gln) rs371952237
NM_000180.4(GUCY2D):c.3274C>A (p.Arg1092=) rs746525316
NM_000180.4(GUCY2D):c.327C>G (p.Gly109=) rs2151799371
NM_000180.4(GUCY2D):c.327C>T (p.Gly109=)
NM_000180.4(GUCY2D):c.3289G>A (p.Ala1097Thr)
NM_000180.4(GUCY2D):c.3289G>T (p.Ala1097Ser)
NM_000180.4(GUCY2D):c.3292C>G (p.Arg1098Gly) rs776624188
NM_000180.4(GUCY2D):c.3292C>T (p.Arg1098Trp) rs776624188
NM_000180.4(GUCY2D):c.3297G>C (p.Pro1099=)
NM_000180.4(GUCY2D):c.330G>T (p.Ser110=)
NM_000180.4(GUCY2D):c.3311G>C (p.Ter1104Ser) rs1301554038
NM_000180.4(GUCY2D):c.339C>T (p.Ala113=)
NM_000180.4(GUCY2D):c.340G>T (p.Val114Leu) rs1240857882
NM_000180.4(GUCY2D):c.346T>C (p.Ser116Pro) rs2151799381
NM_000180.4(GUCY2D):c.348C>T (p.Ser116=) rs1598144036
NM_000180.4(GUCY2D):c.352C>T (p.Leu118=)
NM_000180.4(GUCY2D):c.366G>C (p.Ser122=) rs1975671932
NM_000180.4(GUCY2D):c.36G>A (p.Pro12=)
NM_000180.4(GUCY2D):c.372C>A (p.Leu124=)
NM_000180.4(GUCY2D):c.372C>T (p.Leu124=)
NM_000180.4(GUCY2D):c.381G>C (p.Pro127=)
NM_000180.4(GUCY2D):c.392C>A (p.Ala131Glu)
NM_000180.4(GUCY2D):c.400C>T (p.Arg134Trp) rs2151799404
NM_000180.4(GUCY2D):c.408C>A (p.Ala136=)
NM_000180.4(GUCY2D):c.40C>A (p.Pro14Thr)
NM_000180.4(GUCY2D):c.40C>G (p.Pro14Ala) rs1975658549
NM_000180.4(GUCY2D):c.411G>C (p.Glu137Asp)
NM_000180.4(GUCY2D):c.414G>C (p.Leu138=)
NM_000180.4(GUCY2D):c.417C>A (p.Leu139=)
NM_000180.4(GUCY2D):c.417C>T (p.Leu139=)
NM_000180.4(GUCY2D):c.418G>A (p.Ala140Thr) rs776276813
NM_000180.4(GUCY2D):c.420C>T (p.Ala140=)
NM_000180.4(GUCY2D):c.42C>T (p.Pro14=)
NM_000180.4(GUCY2D):c.431G>T (p.Gly144Val) rs1975674167
NM_000180.4(GUCY2D):c.438G>A (p.Ala146=)
NM_000180.4(GUCY2D):c.438G>T (p.Ala146=)
NM_000180.4(GUCY2D):c.442del (p.Val148fs)
NM_000180.4(GUCY2D):c.448T>C (p.Trp150Arg)
NM_000180.4(GUCY2D):c.449G>C (p.Trp150Ser)
NM_000180.4(GUCY2D):c.450G>A (p.Trp150Ter)
NM_000180.4(GUCY2D):c.456C>T (p.Cys152=)
NM_000180.4(GUCY2D):c.457C>T (p.Pro153Ser)
NM_000180.4(GUCY2D):c.459C>T (p.Pro153=) rs2151799423
NM_000180.4(GUCY2D):c.45G>T (p.Gly15=)
NM_000180.4(GUCY2D):c.468G>A (p.Gln156=)
NM_000180.4(GUCY2D):c.471G>A (p.Ala157=)
NM_000180.4(GUCY2D):c.475G>A (p.Gly159Ser) rs1975674812
NM_000180.4(GUCY2D):c.484dup (p.Ala162fs) rs2151799452
NM_000180.4(GUCY2D):c.485C>A (p.Ala162Asp)
NM_000180.4(GUCY2D):c.489T>G (p.Pro163=)
NM_000180.4(GUCY2D):c.490G>A (p.Ala164Thr)
NM_000180.4(GUCY2D):c.492C>G (p.Ala164=)
NM_000180.4(GUCY2D):c.492C>T (p.Ala164=)
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg) rs1008930073
NM_000180.4(GUCY2D):c.507G>T (p.Ala169=)
NM_000180.4(GUCY2D):c.516C>G (p.Leu172=)
NM_000180.4(GUCY2D):c.516C>T (p.Leu172=)
NM_000180.4(GUCY2D):c.519C>T (p.Tyr173=) rs794727237
NM_000180.4(GUCY2D):c.51C>A (p.Cys17Ter)
NM_000180.4(GUCY2D):c.520G>T (p.Ala174Ser) rs978982123
NM_000180.4(GUCY2D):c.521C>A (p.Ala174Asp)
NM_000180.4(GUCY2D):c.525G>A (p.Leu175=) rs570251619
NM_000180.4(GUCY2D):c.526C>T (p.Leu176Phe) rs1975677447
NM_000180.4(GUCY2D):c.531C>T (p.Arg177=)
NM_000180.4(GUCY2D):c.533C>T (p.Ala178Val)
NM_000180.4(GUCY2D):c.534A>G (p.Ala178=) rs758629545
NM_000180.4(GUCY2D):c.534A>T (p.Ala178=)
NM_000180.4(GUCY2D):c.556C>T (p.Leu186=)
NM_000180.4(GUCY2D):c.564del (p.Ala189fs) rs2151799492
NM_000180.4(GUCY2D):c.567C>G (p.Ala189=)
NM_000180.4(GUCY2D):c.569C>G (p.Pro190Arg) rs1484809146
NM_000180.4(GUCY2D):c.573G>A (p.Gln191=)
NM_000180.4(GUCY2D):c.590C>T (p.Ala197Val)
NM_000180.4(GUCY2D):c.591G>C (p.Ala197=)
NM_000180.4(GUCY2D):c.595C>T (p.Arg199Cys) rs917296356
NM_000180.4(GUCY2D):c.598T>C (p.Ser200Pro)
NM_000180.4(GUCY2D):c.607A>T (p.Thr203Ser) rs1975680506
NM_000180.4(GUCY2D):c.608C>T (p.Thr203Met) rs1975680589
NM_000180.4(GUCY2D):c.609G>A (p.Thr203=)
NM_000180.4(GUCY2D):c.60G>C (p.Ala20=)
NM_000180.4(GUCY2D):c.618G>A (p.Arg206=)
NM_000180.4(GUCY2D):c.624G>A (p.Arg208=)
NM_000180.4(GUCY2D):c.628C>T (p.Leu210=)
NM_000180.4(GUCY2D):c.630G>A (p.Leu210=)
NM_000180.4(GUCY2D):c.636C>T (p.Val212=)
NM_000180.4(GUCY2D):c.642C>G (p.Ser214=)
NM_000180.4(GUCY2D):c.660C>T (p.Pro220=)
NM_000180.4(GUCY2D):c.667C>T (p.Leu223=)
NM_000180.4(GUCY2D):c.669G>T (p.Leu223=)
NM_000180.4(GUCY2D):c.672T>C (p.Ser224=)
NM_000180.4(GUCY2D):c.679C>A (p.Arg227=) rs1366343667
NM_000180.4(GUCY2D):c.681G>A (p.Arg227=)
NM_000180.4(GUCY2D):c.685G>T (p.Ala229Ser)
NM_000180.4(GUCY2D):c.690_693del (p.Lys232fs) rs2151799567
NM_000180.4(GUCY2D):c.693G>T (p.Arg231Ser) rs759280279
NM_000180.4(GUCY2D):c.69T>A (p.Ala23=)
NM_000180.4(GUCY2D):c.705C>A (p.Asp235Glu)
NM_000180.4(GUCY2D):c.705C>T (p.Asp235=)
NM_000180.4(GUCY2D):c.708G>T (p.Gly236=)
NM_000180.4(GUCY2D):c.711C>A (p.Pro237=) rs750484873
NM_000180.4(GUCY2D):c.711C>T (p.Pro237=)
NM_000180.4(GUCY2D):c.714G>A (p.Arg238=)
NM_000180.4(GUCY2D):c.717C>G (p.Val239=)
NM_000180.4(GUCY2D):c.721+10C>T
NM_000180.4(GUCY2D):c.721+17G>A
NM_000180.4(GUCY2D):c.721+17G>T
NM_000180.4(GUCY2D):c.721+5G>C
NM_000180.4(GUCY2D):c.721+5G>T rs1389913804
NM_000180.4(GUCY2D):c.721+8C>G
NM_000180.4(GUCY2D):c.721+9C>T
NM_000180.4(GUCY2D):c.722-17C>T
NM_000180.4(GUCY2D):c.722-4G>A
NM_000180.4(GUCY2D):c.722-5C>T
NM_000180.4(GUCY2D):c.723A>G (p.Ala241=) rs1288920920
NM_000180.4(GUCY2D):c.725T>G (p.Val242Gly) rs1975686657
NM_000180.4(GUCY2D):c.726G>A (p.Val242=) rs886038268
NM_000180.4(GUCY2D):c.735G>A (p.Val245=)
NM_000180.4(GUCY2D):c.736A>G (p.Met246Val) rs959135126
NM_000180.4(GUCY2D):c.743C>G (p.Ser248Trp) rs138922415
NM_000180.4(GUCY2D):c.744G>C (p.Ser248=)
NM_000180.4(GUCY2D):c.752T>C (p.Leu251Pro) rs1243270832
NM_000180.4(GUCY2D):c.75C>T (p.Ser25=)
NM_000180.4(GUCY2D):c.763G>A (p.Glu255Lys)
NM_000180.4(GUCY2D):c.767A>C (p.Gln256Pro) rs2151799650
NM_000180.4(GUCY2D):c.781_782insT (p.Glu261fs)
NM_000180.4(GUCY2D):c.785C>A (p.Ala262Asp)
NM_000180.4(GUCY2D):c.786C>T (p.Ala262=)
NM_000180.4(GUCY2D):c.787G>C (p.Ala263Pro)
NM_000180.4(GUCY2D):c.787G>T (p.Ala263Ser) rs745444949
NM_000180.4(GUCY2D):c.78G>T (p.Leu26=) rs2151799217
NM_000180.4(GUCY2D):c.796C>G (p.Leu266Val)
NM_000180.4(GUCY2D):c.804G>A (p.Leu268=)
NM_000180.4(GUCY2D):c.807C>T (p.Thr269=)
NM_000180.4(GUCY2D):c.813C>T (p.Gly271=)
NM_000180.4(GUCY2D):c.819G>A (p.Leu273=)
NM_000180.4(GUCY2D):c.822C>G (p.Val274=)
NM_000180.4(GUCY2D):c.822C>T (p.Val274=) rs2151799672
NM_000180.4(GUCY2D):c.834C>T (p.Phe278=) rs1248892843
NM_000180.4(GUCY2D):c.835G>A (p.Asp279Asn) rs1478566225
NM_000180.4(GUCY2D):c.838A>G (p.Thr280Ala)
NM_000180.4(GUCY2D):c.840G>A (p.Thr280=)
NM_000180.4(GUCY2D):c.840G>T (p.Thr280=) rs370291650
NM_000180.4(GUCY2D):c.843C>A (p.Ile281=)
NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter) rs143745703
NM_000180.4(GUCY2D):c.849C>T (p.Tyr283=)
NM_000180.4(GUCY2D):c.856_876dup (p.Ser286_Leu292dup) rs2151799690
NM_000180.4(GUCY2D):c.857C>T (p.Ser286Phe)
NM_000180.4(GUCY2D):c.858C>G (p.Ser286=)
NM_000180.4(GUCY2D):c.85C>T (p.Leu29Phe)
NM_000180.4(GUCY2D):c.860del (p.Pro287fs)
NM_000180.4(GUCY2D):c.879C>T (p.Ala293=)
NM_000180.4(GUCY2D):c.87C>G (p.Leu29=)
NM_000180.4(GUCY2D):c.884T>G (p.Leu295Arg) rs2151799705
NM_000180.4(GUCY2D):c.890A>G (p.Asn297Ser)
NM_000180.4(GUCY2D):c.909G>A (p.Arg303=) rs772311336
NM_000180.4(GUCY2D):c.914del (p.His305fs) rs1598144694
NM_000180.4(GUCY2D):c.915C>G (p.His305Gln)
NM_000180.4(GUCY2D):c.915C>T (p.His305=) rs1975693104
NM_000180.4(GUCY2D):c.91C>G (p.Arg31Gly)
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs) rs61749663
NM_000180.4(GUCY2D):c.926_939del (p.Leu309fs) rs1975693728
NM_000180.4(GUCY2D):c.92G>A (p.Arg31Gln)
NM_000180.4(GUCY2D):c.934A>G (p.Thr312Ala)
NM_000180.4(GUCY2D):c.935C>A (p.Thr312Lys)
NM_000180.4(GUCY2D):c.935C>G (p.Thr312Arg) rs61749673
NM_000180.4(GUCY2D):c.93G>T (p.Arg31=)
NM_000180.4(GUCY2D):c.941dup (p.His314fs)
NM_000180.4(GUCY2D):c.94_105del (p.Ala32_Arg35del)
NM_000180.4(GUCY2D):c.954A>G (p.Glu318=)
NM_000180.4(GUCY2D):c.956_967dup (p.Gly319_Leu322dup) rs1248938251
NM_000180.4(GUCY2D):c.964C>T (p.Leu322=) rs563208176
NM_000180.4(GUCY2D):c.969C>T (p.Asp323=)
NM_000180.4(GUCY2D):c.978C>T (p.Arg326=) rs2151799758
NM_000180.4(GUCY2D):c.983C>A (p.Ala328Asp)
NM_000180.4(GUCY2D):c.990G>A (p.Glu330=) rs2151799762
NM_000180.4(GUCY2D):c.992G>T (p.Arg331Leu)
NM_000180.4(GUCY2D):c.993C>T (p.Arg331=)
NM_000180.4(GUCY2D):c.995G>C (p.Arg332Pro)
NM_000180.4(GUCY2D):c.996C>T (p.Arg332=)
NM_000180.4(GUCY2D):c.997G>C (p.Glu333Gln) rs755999834

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